Autosomal recessive spastic paraplegia type 49
Alternate names
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation; HSAN due to TECPR2 mutation; Autosomal recessive spastic paraplegia-49; SPG49; TECPR2
Definition
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation is a rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face.
NIH genetic and rare disease info
Autosomal recessive spastic paraplegia type 49 is a rare disease.
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